| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C0027672 | Neoplastic Syndromes, Hereditary | group | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | Neoplastic Process | 67 | 6385 | ||
| C0004779 | Basal Cell Nevus Syndrome | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases | Neoplastic Process | genetic disease | 3 | 117 |